Question.
A 1½ years old boy had fever with elevated liver enzyme sin January 2009. He continued to have persistently elevated liver enzymes and was referred in May 2009 for further management. There was no jaundice. On examination, he had no significant abnormality
and no organomegaly. His Hepatitis A IgM, HBsAg, Hepatitis E ELISA and Hepatitis C antibody were negative. His ANA, anti smooth muscle antibody, anti LKM were negative. Serum alpha fetoprotein and urine aminoacidogram were normal. Liver biopsy copper content
was 11.3 µg, gm though 24 hrs urine copper was 132.3. He continued to have elevated liver enzymes and at 4½ years of age, he presented with difficulty to get up from sitting position. On examination, he had calf hypertrophy with Gower’s sign positive. His
CPK was 15,560 IU, L and EMG showed primary myopathy.

Answers of this discussion

Author :-

ahmad hallaq on 08 November 2012.

Answer :-
glycogen storage disease

Author :-

shanthi shanthi on 08 November 2012.

Answer :-
Duchenne muscular dystrophy can sometimes have high liver enzymes. This child is very likely to have DMD

Author :-

asuwaidicas on 08 November 2012.

Answer :-
Gsd.typeV

Author :-

Mustafa Aydin on 08 November 2012.

Answer :-
Duchenne muscular distrophy

Author :-

Eiman Abdalla on 10 November 2012.

Answer :-
What about liver biopsy which will tell if it is glycogen storage, or whta pathology whihc might narrow the differential muscle biopsy might also be of help

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